default author photo

Valentina Emmanuele

Columbia University - Irving Medical Center

Department of Medicine

William Black Building, 8th Floor BB8-801C

New York, NY NY 10032

United States

  • Columbia University - Irving Medical Center

SCHOLARLY PAPERS

2

DOWNLOADS

129

TOTAL CITATIONS

0

Scholarly Papers (2)

Actions:
Email selected abstracts
1.

Time to Harmonize Mitochondrial Syndrome Nomenclature and Classification: A Consensus from the North American Mitochondrial Disease Consortium (Namdc)

Number of pages: 21 Posted: 14 Mar 2022
Valentina Emmanuele, Jaya Ganesh, Georgirene Vladutiu, Richard Haas, Douglas Kerr, Russell P. Saneto, Bruce H. Cohen, Boyd Buis, Fernando Scaglia, Charles Hoppel, Xiomara Q. Rosales, Emanuele Barca, Richard Buchsbaum, John L. Thompson, Salvatore DiMauro and Michio Hirano
Columbia University - Irving Medical Center, Mount Sinai Health System - Icahn School of Medicine, affiliation not provided to SSRN, University of California, San Diego (UCSD) - School of Medicine, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, VU University Amsterdam, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Columbia University - Irving Medical Center, affiliation not provided to SSRN, affiliation not provided to SSRN, Columbia University - Irving Medical Center and Columbia University - Irving Medical Center
Downloads 82 (796,622)

Abstract:

Loading...

mitochondrial disease, mitochondrial disorders, oxidative-phosphorylation, mitochondrial DNA

2.

Recurrent Rhabdomyolysis Due to a Pathogenic Mt-Co3 Variant: Implications for Routine Mtdna Testing in Myopathy Panels

Number of pages: 5 Posted: 13 Aug 2025
Emanuele Barca, Nuri Jacoby, Ali Naini, Michael Miller, Valentina Emmanuele, Saba Tadesse, Christopher Winfree, Kurenai Tanji and Michio Hirano
Columbia University - Irving Medical Center, affiliation not provided to SSRN, Columbia University, Columbia University, Columbia University - Irving Medical Center, Columbia University, Columbia University, Columbia University - Department of Pathology and Cell Biology and Columbia University
Downloads 47 (1,109,210)

Abstract:

Loading...

mitochondrial DNA, rhabdomyolysis, mtDNA pathogenic variant, COX stain, single-fiber analysis